nucleotide polymorphism (SNP) genotyping services—the results of which are available to browse online. Using these results can be a very useful tool for a variety of reasons: overall understanding of genetics, personalized healthcare and finding relatives. 23andMe was founded in 2006 by Linda Avey and Anne Wojcicki in Mountain View, California. The corporate fact page for the company states it is:
“a privately-held company dedicated to helping individuals understand their own genetic information using recent advances in DNA analysis technologies and web-based interactive tools. 23andMe enables individuals to gain deeper insights into personal ancestry, genealogy and inherited traits.”
Obtaining SNP data from 23andMe is simple. Customers have a few purchasing options when buying services from this company. The first option charges the customer $99 and a reoccurring monthly fee of $9 with a year commitment. This option allows the customer access to new information which is added on a regular basis. The second option costs $379. A customer who goes this route need not worry about any monthly charge as their SNP map is a one-time deal. This means that the customer will not get up to date information. When an order is placed said customer will receive the kit which contains a collection tube and information packets. He or she is instructed to put a saliva sample into the provided tube. After mailing the tube back to the company HQ, their lab will extract DNA from check cells in the saliva. The scientists will then genotype the genetic material and have results in 6 to 8 weeks. These genomic results will be available to the customer online to browse, study, and compare. Although the company can provide a customer with genetic information a complete DNA sequence is not taken. Instead, the results come from investigating a series of specific variable sites on the DNA called single-nucleotide polymorphisms or SNPs.
Every human has about the same amount of the same genes-20,000. The slight variation in each gene creates the differences between humans that we see. For example, there are no specific “blue eye” genes. Instead, there is a gene that codes for eye color. A slight difference in nucleotide sequence creates the color variation in eyes. When a cell splits, it needs to copy its genetic information before doing so. Occasionally cells make copying errors; one nucleotide is mistaken and another is inserted. An SNP might change the DNA sequence AAGGCTAA to ATGGCTAA. Two of every three SNPs involve the replacement of cytosine with thymine. (United States Department of Energy). These errors are passed down by generation and become the SNPs that we recognize. There are many places where SNPs create variation: Disease susceptibility, appearance, and health. However, “Most SNPs seem to lead to no observable differences between people at all” (23andMe). As DNA is passed down from parent to offspring, SNP differences are passed down as well. The amount of SNP similarities between two individuals is a measure of relatedness. Individuals who have more SNPs in common may be closely related and vice versa.
In 2010, 23andMe researchers published an article on “the replications of associations” for a variety of genetic traits. This research was done by using data collected from genotype information surveys by 23andMe customers. An interesting trait researched by 23andMe is the photic sneeze reflex. Photic sneeze is described as:
“a 'disorder ' characterized by nearly uncontrollable paroxysms of sneezing provoked in a reflex fashion by the sudden exposure of a dark-adapted subject to intensely bright light, usually sunlight. The number of successive sneezes was usually 2 or 3, but could be as many as 43” (McKusick).
This ‘disorder’ was first noted in Aristotle’s Book XXXIII. It was concluded in 23andMe’s study that photic sneeze “is inherited in an autosomal dominant fashion” (Eriksson et al 2). Rs11856995 was found to have a possible association with the reflex (Eriksson et al 10). Another trait determines how an individual tastes raw broccoli. To some, broccoli is very bitter: others cannot detect this bitter taste at all. The SNP that causes this variation codes for tongue cells. The nucleotide sequence differentiations determine who tastes bitter broccoli and who doesn’t (23andme) So an individual sends his ‘spit cup’ back to 23andMe: what exactly happens next? When 23andMe’s lab receives a bottle, the first thing a technician does is scan it to identify information. The technician then visually observes the bottle to make sure the saliva samples reaches the fill line: occasional leaks happen. Next, DNA is extracted from the cheek cells which are in the saliva. When a sample provides technicians with enough DNA, it gets chopped up and spread on a microarray, or BeadChip. This bead chip-which is a little bit larger than a stick of gum- is a glass slide containing millions of beads. Each bead is programmed to read for a certain SNPs. Each probe contains tiny complimentary pieces of DNA. Bits of the customers DNA stick to these probes which then start glowing. The glowing areas indicate the SNP and its sequence. Each bead also has probes for the two possible nucletides each SNP could be. The chip that 23andMe utilizes, Illumina OmniExpress Plus, scans for 1,000,000 SNPS. This is only about a 10th of the over 10,000,000 SNPs that may be in existence. After analyzing, the results are sent back to 23andMe headquarters and put online for the customer to see (23andMe). What do these results look like?
Well accessing the data is easy. All a customer has to do is log in to the 23andMe website using a username and password and go to ‘Gene Journal’. A list of all sorts of genes are displayed on this page. A few examples are: Alcohol flush reaction, ear wax type, and malaria resistance. Some of the SNPs are just for fun. Other SNPs may be more serious. Another page shows possible diseases one may be a carrier of such as cystic fibrosis or maple syrup urine disease. A percentage a customer has of contracted certain diseases is also available for viewing. 23andMe also provides customers with heredity information—parental and maternal. Place of origin and age of some genetic information can be found in the heredity sections. These sections show what percent of European, African, and Asian you have within your DNA. There is also a page also shows you genetic information of a few famous actors and musicians and how you compare. Another interesting feature of 23andMe is the ability to share genetic information with other users; only with your permission of course. Recently, 23andMe has added a new feature: Relative Finder. This new program allows users to find other members that may be relatives. However, 23andMe members can select how much of their genetic information they wish to share. One member may want to disclose all of his/her information, allowing for easy relative location. On the other hand, some members may wish to keep all their information to
themselves.
Who started this whole company anyway? Believe it or not, it was started by two women. Two extremely intelligent women. The first co-founder is Anne Wojcicki, a Yale graduate with a B.S in biology. She was a health care investor of over 10 years. Most of her past experience is from working with other biotechnology companies. According to Wojcicki’s online bio, she “left the investing world with the hope that she could have a positive impact on research and medicine through 23andMe” (23andMe). Wojcicki hopes that 23andMe and future research on genotyping and sequencing will advanced the medical field and personalized medicine. Co-founder Linda Avey is a graduate of Augustina University with a B. A in biology. Avey spent over 20 years in business aspect of the pharmaceutical industry. Prior to 23andMe she also assisted scientists in the early stages of the human genome project. Like Wojcicki, Avey also was interested in advancing the practices of personal medication. In 2009, Avey left 23andMe to focus on her Alzheimer’s Disease foundation (Huffington Post). Many companies have teamed up with 23andMe as investors to help further genetic research. Some of these companies include Google, Roche, Johnson & Johnson, and Genentech. Back in 2008, Ancestry.com also joined along with 23andMe to provide customers with extended access to genetic ancestry expertise (23andMe). It should be noted that what 23andMe does is not full DNA sequencing. Unlike genotyping for certain SNPs, sequencing takes the entire genome of ones DNA. 23andMe doesn’t do this for a few reasons. First off, it’s much more expensive and complex. As stated previously, most SNPs seem to make any difference at all. 23andMe decides to focus on SNPs that have been proven to be expressed. Scanning for just these SNPs is a much simpler process. However, some sequencing techniques such as PCR and Microarrays are used when genotyping for these SNPs. Genotyping is great way to learn about ourselves and genetics in general; however, issues will always arise concerning breakthrough technologies such as this. One concern is whether genotyping and sequencing will become required or not. Some believe in the “Gattaca” like dystopian world in which genotyping will result in genetic discrimination. Critics of genotyping think that this information may not be able to be kept private. Another argument by critics is that genetic testing may be used to restrict certain individuals from employment or obtaining health insurance. These statements have some validity however there are laws that protect us. The Genetic Information Non Discrimination Act passed in 2008 protects individuals from discrimination by health insurers and employers. However, this act does not include some types of insurance: such as life insurance (Symanietz). However, personal genomics has many major benefits. Certain SNPs can determine how we react to certain kinds of drugs. One patient may be highly allergic to one medication that could be very effective for another. Part of an emerging field called personalized medicine, pharmacogenomics offers the promise of predicting whether a medication is likely to help or hurt you before you ever take it. According to The National Institute of General Medicine Sciences, “Most doctors used a "one-size-fits-all" approach to prescribing medicines. They usually started with standard doses, and then observed how patients responded. If necessary, doctors changed the doses or drugs by a "trial and error" process.” 23andMe’s genotyping service can help determine what drugs will be more effective for an individual versus another drug. Further study in pharmacogenomics will soon increase a doctors ability to treat and diagnose illness. Before, a doctor prescribed a dosage of medication based on a patients age and weight. Now doctors can analyze a patients “genetic profile” to determine a best dosage of medication. Pharmaceuticals will also become more customized which will benefit specific patients and will help streamline the clinical trials process. Lastly, doctors will be able to select drugs that result in the fastest recovery with no adverse effects (National Institute of General Medicine Sciences). As well as personalized drugs, health care in general can be personalized as well. Genotyping will help people asses their health and identify potential risk for disease. An individual may discover they might be at risk for harboring a deadly cancer within their genome. This sort of discovery may lead to a series of life changes decisions. Imagine a pregnant woman who discovers she may be at risk for an aggressive form of cancer. This means her child carries this risk as well. Does she keep her child or not? In a Chinese article discussing the pros and cons of genotyping, author H M Sass states an individual can “get guidance for making reproductive decisions giving them for the first time the opportunity for parental responsibility via preimplantation diagnosis and prenatal screening” (Sass).
Data from 23andMe can be shared with a customer’s doctor. Data is laid out to be easily analyzed by a health care provider. Together, a patient and doctor can plan out lifestyle changes and take preventive steps to stay healthy. Once a doctor has your information, they can chart and monitor your condition on subsequent visits. An individual who may be at risk for diabetes after looking at their genotyping results has an opportunity to act early. A healthier diet and exercise—simple lifestyle changes—can help prevent diabetes before it emerges. CDC spokesman Dr. Muin Khoury stated that “15% had brought their test results to the [provider] for discussion.” and “most of these healthcare providers said the test results changed some aspect of the patient 's care, such as screening tests offered, and medications or dosages prescribed” However, Khoury believes that the use of genetic test results is currently not ready for “prime time.” Institutions have been opening up across the US to help get personalized health care ready for “prime time.” One such institution is The Ohio State Center for Personalized Healthcare. The mission statement of the Center’s website states:
Building on an unprecedented surge in medical knowledge, the Center for Personalized Health Care’s mission is to propel translational and clinical research in personalized health care at The Ohio State University Medical Center, facilitate the incorporation of this research into patient care, and educate and advocate for the practice of personalized health care locally, nationally and internationally (The Ohio State Center for Personalized Healthcare).
This institution is currently conducting studies to better understand the uses of genomic information within personalized medicine to improve a person’s health. The ability to detect disease at an earlier stage and increase patient compliance with therapy will ultimately improve healthcare as we know it.
“SNPs do not cause disease, but they can help determine the likelihood that someone will develop a particular illness” (United States Department of Energy). 23andMe has compiled data on hundreds of disease related SNPs. Online results offer all sorts of disease information. Alzheimer’s disease is one that 23andMe gives customers results on. Alzheimer’s is a form of dementia that effects over five millions Americans today (Alzheimer’s Association). Many diseases have SNP variants but may have little influence on whether or not it will emerge. However, Alzheimer’s is known to be strongly related to the apolipoprotein E (ApoE) gene. This ApoE gene has two possible SNPs which can make three different types of alleles: E2, E3, and E4. Every child inherits one of these alleles for the ApoE gene from their mother and father. Research has shown that individuals who inherit one E4 allele have a much higher risk of developing Alzheimer 's. According to the Human Genome Project Information website, “the change of one amino acid in the E4 protein alters its structure and function enough to make disease development more likely.” 23andMe data can tell a customer if his/her DNA contains this E4 variant. Because Alzheimer’s is an incurable life changing disease, customers can chose whether or not they want to view their ApoE results (The Spittoon). SNP testing for genetic disease such as Alzheimer’s is not always accurate. One may be a carrier of the E4 variant and may never develop Alzeimer’s. The “polygenic nature” of genetic disorders can make tracking down these diseases difficult.
In 2008, 23andMe’s ‘retail DNA test’ was named Time Magazine’s number one invention of the year. As genotyping and genetic research continues to expand, the possibilities will become greater. Avey and Wojcicki founded this revolutionary biotech company in hopes of better educating the masses about genetics. Each customer learns in depth about what makes them unique. Each individual’s genetic code is virtually the same; however, the few differences in our genes are what make everyone ‘special’. Using genetic tests for medical purposes may open many doors in the healthcare field. Personalized medication and treatment are revolutionary concepts made possible by genotyping. 23andMe’s mission statement reads “to be the world 's trusted source of personal genetic information.” (23andMe). 23andMe is on the right track with an ever growing date base of SNPs and continued genotyping service to its customers.
Works Cited
23andMe (2006). 23andMe’s Website. [Online] Availible: 23andMe.com. (December 10, 2011)
Alzheimer’s Association, (2011), Alzheimer 's Facts and Figures. [Online] Available: http://www.alz.org/alzheimers_disease_facts_and_figures.asp (December 9, 2011)
Eriksson et al (2010). Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits. PLoS Genetics, 6, 1-20.
Khoury, Murin, (2010), CDC Commentary: Personal Genomic Testing: Information for Healthcare Providers. [Online] Available: www.medscape.com/viewarticle/724963 (December 9, 2011)
McKusick, Victor, (1986), Achoo Syndrome. [Online] Available: http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=omim&dopt=Detailed&tmpl=dispomimTemplate&list_uids=100820 (December 9, 2011)
National Institute of General Medicine Sciences, (2006), Personalized Medicines Fact Sheet.
[Online]Available: www.nigms.nih.gov/Research/FeaturedPrograms/PGRN/Background/FactSheet.htm
(December 9, 2011)
The Ohio State University Center for Personalized Health Care (2011). [Online] Available: http://cphc.osu.edu/index.cfm (December 9,2011)
Sass, HM (2006). Ethical Issues in Genotyping for Pharmacogenetics and Genetic Disorders. Hong Kong Journal of Pediatrics, 11, 297-305.
The Spittoon, (2011), 23andMe Launches Health Report on Alzheimer’s Disease. [Online]
Available: http://spittoon.23andme.com/2011/04/15/23andme-launches-health-report-on-alzheimers-disease/ (December 1, 2011)
Symanietz, Tim, (1999), Ethics, Business and the Human Genome Project. [Online]
Available:www.ndsu.edu/pubweb/~mcclean/plsc431/students99/symanietz.htm (December 1, 2011)
United States Department of Energy, (2000), SNP Fact Sheet. [Online] Available: http://www.ornl.gov/sci/techresources/Human_Genome/faq/snps.shtml#risks (December 9, 2011)